We report a 14-year old boy with an unusual presentation of extensive bilateral macular coloboma with planovalgus feet dynamics and left foot drop due to anterior horn cell disease
While the presence of reflexes is reassuring, absence suggests a peripheral nerve problem or anterior horn cell disease
Although muscle denervation and reduced CMAP amplitudes do not distinguish loss of anterior horn cells from loss of motor axons (15), these patients' clinical features can be explained only by anterior horn cell disease
, since no known infectious processes limited to motor axons produce widespread, asymmetric paralysis without sensory involvement.
Our search for an answer to her worsening condition ultimately led us to the University of Utah and their Primary Children's Medical Center, where the geneticists informed us that Bridget had something called anterior horn cell disease